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浏览/检索结果: 共11条，第1-10条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 CEP78 is mutated in a distinct type of Usher syndrome 期刊论文 JOURNAL OF MEDICAL GENETICS, 2017, 卷号: 54, 期号: 3 作者:  Fu, Qing;  Xu, Mingchu;  Chen, Xue;  Sheng, Xunlun;  Yuan, Zhisheng 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05 Genetic screening revealed usher syndrome in a paediatric Chinese patient 期刊论文 Hearing, Balance and Communication, 2017, 卷号: 15, 期号: 2, 页码: 1-9 作者:  Qu C.;  Liang F.;  Long Q.;  Zhao M.;  Shang H. 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/11 hearing loss  mutation  MYO7A  retinitis pigmentosa  Usher syndrome   Loss of CIB2 Causes Profound Hearing Loss and Abolishes Mechanoelectrical Transduction in Mice 期刊论文 FRONTIERS IN MOLECULAR NEUROSCIENCE, 2017, 卷号: 10 作者:  Wang, Yanfei;  Li, Jie;  Yao, Xuerui;  Li, Wei;  Du, Haibo 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/12 hearing loss  Usher syndrome  CIB2  knockout mice  stereocilia  mechanoelectrical transduction   Genetic screening revealed usher syndrome in a paediatric Chinese patient 期刊论文 2017, 卷号: 15, 期号: 2, 页码: 98-106 作者:  Qu Chunyan;  Liang Fenghe;  Long Qin;  Zhao Min;  Shang Haiqiong 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/04 Hearing loss  MYO7A  Mutation  Retinitis pigmentosa  Usher syndrome   CEP78 is mutated in a distinct type of Usher syndrome 期刊论文 2017, 卷号: 54, 期号: 3, 页码: 190-195 作者:  Fu, Qing;  Xu, Mingchu;  Chen, Xue;  Sheng, Xunlun;  Yuan, Zhisheng 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/04 CEP78  Usher syndrome  cone-rod dystrophy  next-generation sequencing   Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family 期刊论文 INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2015, 卷号: 36, 期号: [db:dc_citation_issue], 页码: 1035-1041 作者:  Zheng, Sui-Lian;  Zhang, Hong-Liang;  Lin, Zhen-Lang;  Kang, Qian-Yan 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/02 USH2A gene mutation  whole-exome sequencing  Usher syndrome   Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients 期刊论文 2015, 卷号: 10, 页码: 110 作者:  Jiang, Lichun;  Liang, Xiaofang;  Li, Yumei;  Wang, Jing;  Zaneveld, Jacques Eric 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13 The Very Large G Protein Coupled Receptor (Vlgr1) in Hair Cells 期刊论文 JOURNAL OF MOLECULAR NEUROSCIENCE, 2013, 卷号: 50, 期号: 1, 页码: 204-214 作者:  Sun, Jin-Peng;  Li, Rong;  Ren, Hong-Ze;  Xu, An-Ting;  Yu, Xiao 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/23 Very large G protein coupled receptor (Vlgr1)  G protein coupled  receptor (GPCR)  Hearing  Usher syndrome   Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II 期刊论文 HUMAN MOLECULAR GENETICS, 2012, 卷号: 21, 期号: 3 作者:  Zou, Junhuang;  Wang, Le;  Shen, Zuolian;  Song, E.;  Yang, Jun 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05 Current understanding of usher syndrome type II 期刊论文 FRONTIERS IN BIOSCIENCE-LANDMARK, 2012, 卷号: 17 作者:  Yang, Jun;  Wang, Le;  Song, Hongman;  Sokolov, Maxim 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 USH2A  GPR98  VLGR1  whirlin  periciliary membrane complex  the ankle-link  retinitis pigmentosa  photoreceptors  hearing loss  hair cells